[Research on the life stress and hypertension among young couples of childbearing age].

To investigate the current status of life stress and hypertension among couples of childbearing age across diverse economic regions in China, and to explore relevant influencing factors. This study was a cross-sectional study, with subjects from the "Research on the standardized system of comprehensive prevention and control of birth defects based on preconception-prenatal-postnatal whole chain". From February to May 2021, urban and rural couples of childbearing age (18-49 years old) from Beijing, Henan, and Gansu provinces were enrolled, representing the eastern, central, and western regions of China, respectively.

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Background: Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligation-dependent probe amplification. To date, increasing numbers of pathogenic deep intronic variants have been reported in more than 100 disease-associated genes.

Chondroitin sulfate alleviates osteoporosis caused by calcium deficiency by regulating lipid metabolism.

The use of non-drug intervention for calcium deficiency has attracted attention in recent years. Although calcium carbonate is the preferred raw material for calcium supplementation, there are few reports on the mechanism of the combined action of chondroitin sulfate and calcium to alleviate osteoporosis from the perspective of gut microbiota and metabolomics. In this study, a rat model of osteoporosis was established by feeding a low-calcium diet.

Interaction of Passive Smoking and Diet Habits on Vitamin D Deficiency among Women of Reproductive Age in Rural Central China.

Objective: Maternal dietary undernutrition is known to be associated with the risk of vitamin D (VD) deficiency. However, whether the risk of VD deficiency in women of reproductive age is influenced by the interaction between passive smoking and inadequate nutrition remains unknown. The aim of this study is to explore the interaction between passive smoking and dietary undernutrition on the risk of VD deficiency.

Atorvastatin Inhibits High-Fat Diet-Induced Lipid Metabolism Disorders in Rats by Inhibiting Reduction and Improving Metabolism.

Purpose: The prevalence of hyperlipidemia and related illnesses is on its rise, and atorvastatin is the frequently used hypolipidemic agent. However, there is still uncertainty about the mechanisms, especially the relationship between the lipid-lowering effect, intestinal microbiome, and metabolic profiles. We aim to intensively explain the mechanism of the hypolipidemic effect of atorvastatin through multi-omics perspective of intestinal microbiome and metabolomics.

Maternal Passive Smoking, Vitamin D Deficiency and Risk of Spontaneous Abortion.

Background: Maternal passive smoking and vitamin D deficiency might elevate risk of spontaneous abortion. The study aimed to investigate the association of co-exposure to passive smoking and vitamin D deficiency with the risk of spontaneous abortion. Methods: A population-based case-control study was performed among non-smoking women in Henan Province, China, with 293 spontaneous abortion cases and 496 liveborn controls with term, normal birthweight.

Gut microbiota-derived metabolite trimethylamine-N-oxide and multiple health outcomes: an umbrella review and updated meta-analysis.

Background: Trimethylamine-N-oxide (TMAO) is a gut microbiota-derived metabolite produced from dietary nutrients. Many studies have discovered that circulating TMAO concentrations are linked to a wide range of health outcomes.

Objectives: This study aimed to summarize health outcomes related to circulating TMAO concentrations.

Composition of fine particulate matter and risk of preterm birth: A nationwide birth cohort study in 336 Chinese cities.

Background: Potential hazards of fine particulate matter (PM) constituents on preterm birth (PTB) have rarely been explored in China.

Objective: To quantify the associations of PM constituents with PTB.

Methods: This study was based on a nationwide cohort of 3,723,169 live singleton births delivered between January 2010 and December 2015 in China.

Trends of Adverse Pregnancy Outcomes in a High Prevalence Region of Birth Defects - Shanxi Province, China, 2007-2019.

Shanxi Province in northern China has been identified as a region with the highest prevalence of birth defects nationwide. With large amounts of financial support devoted for prevention and related interventions for birth defects, huge progress has been made as a 60% decrease in its prevalence was observed from 2009 to 2014. The study presented a recent trend of adverse pregnancy outcomes (APOs) in Shanxi Province, a region with high prevalence of birth defects in China from 2007-2019.

Absolute quantification of 2-hydroxyglutarate on tissue by matrix-assisted laser desorption/ionization mass spectrometry imaging for rapid and precise identification of isocitrate dehydrogenase mutations in human glioma.

Isocitrate dehydrogenase (IDH) gene mutations are important predictive molecular markers to guide surgical strategy in brain cancer therapy. Herein, we presented a method using matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI MSI) for absolute quantification of 2-hydroxyglutarate (2-HG) on tissues to identify IDH mutations and evaluate tumor residue. This analytical method was tested among 34 glioma patients and validated with gold standard clinical technologies.

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.

Background: Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported.

Dietary potato intake and risks of type 2 diabetes and gestational diabetes mellitus.

Background & Aims: Evidence regarding associations between potato consumption and type 2 diabetes (T2D) and gestational diabetes mellitus (GDM) risks is accumulating. This study aims to synthesize the evidence by conducting a meta-analysis of available studies.

Methods: PubMed, Web of Science, EMBASE and Cochrane Library were searched (up to August 2020) to retrieve all eligible studies on the associations of interest.

Maternal Pre-conception Body Mass Index and Fasting Plasma Glucose With the Risk of Pre-term Birth: A Cohort Study Including 4.9 Million Chinese Women.

To evaluate the associations of pre-conception body mass index (BMI), fasting plasma glucose (FPG) alone and their combination with pre-term birth (PTB) risk. We conducted a population-based retrospective cohort study with 4,987,129 reproductive-aged women, who participated in National Free Pre-Pregnancy Checkups Project in 2013-2016 and had a singleton delivery before December 2017 in China. All data analyses were conducted in 2018-2021.

Comparative metagenomic analysis of the vaginal microbiome in healthy women.

The composition of these vaginal microbiome has a significant impact on women's health. However, few studies have characterized the vaginal microbiome of healthy Chinese women using metagenomic sequencing. Here, we carried out a comparative metagenomic analysis to survey taxonomic, functional levels, and microbial communities' genome content in healthy women's vaginal microbiome.

Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight.

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-based studies with 187 million participants. Changes in the prevalence of underweight and total obesity, and to a lesser extent severe obesity, are largely driven by shifts in the distribution of BMI, with smaller contributions from changes in the shape of the distribution.

Highly Sensitive Droplet Digital PCR Method for Detection of de novo EGFR T790M Mutation in Patients with Non-Small Cell Lung Cancer.

Objective: The aim of this study was to investigate the allelic relation between de novo T790M and concomitant sensitizing mutations in EGFR-TKIs naïve NSCLCs and to explore whether the formalin-fixed and paraffin-embedded (FFPE) materials affect the detection of de novo EGFR T790M mutation.

Methods: Specimens of 300 consecutive EGFR-TKI naïve NSCLCs who received surgical resection between January 2016 and June 2018 were retrospectively investigated. All the snap-frozen tumor tissues from 300 NSCLCs were screened by droplet digital PCR (ddPCR) for the detection of de novo T790M mutation.

Estimation of the time-varying reproduction number of COVID-19 outbreak in China.

Background: The 2019 novel coronavirus (COVID-19) outbreak in Wuhan, China has attracted world-wide attention. As of March 31, 2020, a total of 82,631 cases of COVID-19 in China were confirmed by the National Health Commission (NHC) of China.

Methods: Three approaches, namely Poisson likelihood-based method (ML), exponential growth rate-based method (EGR) and stochastic Susceptible-Infected-Removed dynamic model-based method (SIR), were implemented to estimate the basic and controlled reproduction numbers.

Microarray Analysis for Differentially Expressed Genes Between Stromal and Epithelial Cells in Development and Metastasis of Invasive Breast Cancer.

Both epithelium and stroma are involved in breast cancer invasion and metastasis. This study aimed at identifying the roles of the stroma in breast cancer tumorigenesis and metastasis. Gene expression profiling GSE10797 was downloaded from the Gene Expression Omnibus database, and it included 28-paired stroma and epithelium breast tissue samples from invasive breast cancer patients and 10 paired normal breast tissue samples.

"Sample-to-Answer" Detection of Rare ctDNA Mutation from 2 mL Plasma with a Fully Integrated DNA Extraction and Digital Droplet PCR Microdevice for Liquid Biopsy.

The "sample-to-answer" integration and automation of circulating tumor DNA (ctDNA)-based liquid biopsy using digital PCR (dPCR) has been hampered by the complicated operations of liquids with volumes ranging from milliliter samples to nanoliter droplets. On the basis of a "3D extensible" design paradigm proposed previously, an integrated droplet digital PCR (IddPCR) microdevice was successfully developed to automate the entire process of liquid biopsy, from the extraction of ctDNA in 2 mL of plasma using magnetic beads to the generation, amplification, and screening of over 30 000 droplets for detection. A series of reagent mixing structures, including macro-, meso-, and micromixers, was designed to enable efficient reagent handling and mixing at different volume scales.

Quantitative Detection and Viral Load Analysis of SARS-CoV-2 in Infected Patients.

Background: Coronavirus disease 2019 (COVID-19) has become a public health emergency. The widely used reverse transcription-polymerase chain reaction (RT-PCR) method has limitations for clinical diagnosis and treatment.

Methods: A total of 323 samples from 76 COVID-19-confirmed patients were analyzed by droplet digital PCR (ddPCR) and RT-PCR based 2 target genes (ORF1ab and N).